{"orpha":480,"name":"Kearns-Sayre syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480/","orphanet_url":"https://www.orpha.net/en/disease/detail/480","names":{"fr":{"name":"Syndrome de Kearns-Sayre","definition":"Erreur innée du métabolisme rare caractérisée par une ophtalmoplégie externe progressive (OEP), une rétinite pigmentaire et par une apparition avant l'âge de 20 ans. Les autres caractéristiques fréquentes sont une surdité, une ataxie cérébelleuse et un bloc cardiaque."},"de":{"name":"Kearns-Sayre-Syndrom","definition":"Das Kearns-Sayre-Syndrom (KSS) ist eine angeborene Stoffwechselstörung, die durch eine progressive externe Ophthalmoplegie (PEO) und eine pigmentäre Retinitis gekennzeichnet ist und vor dem Alter von 20 Jahren auftritt. Weitere häufige Merkmale sind Taubheit, zerebelläre Ataxie und kardiale Reizleitungsstörung."},"es":{"name":"Síndrome de Kearns-Sayre","definition":"Es un error congénito del metabolismo poco frecuente caracterizado por oftalmoplejia externa progresiva (OEP), retinosis pigmentaria y un debut clínico antes de los 20 años de edad. Otras características adicionales frecuentes incluyen pérdida auditiva, ataxia cerebelosa y bloqueo cardíaco."},"it":{"name":"Sindrome di Kearns-Sayre","definition":"La sindrome di Kearns-Sayre (KSS) è un raro errore congenito del metabolismo, caratterizzato da oftalmoplegia esterna progressiva (PEO) e retinite pigmentosa, che esordiscono prima dei vent'anni di età. Altri segni clinici comuni sono la sordità, l'atassia cerebellare e il blocco cardiaco."},"nl":{"name":"Syndroom van Kearns-Sayre","definition":"Een zeldzame, aangeboren stofwisselingsziekte, gekarakteriseerd door progressieve externe oftalmoplegie (PEO), retinitis pigmentosa, en een aanvang voor de leeftijd van 20 jaar. Gangbare bijkomende kenmerken zijn onder meer doofheid, cerebellaire ataxie en hartblok."},"pt":{"name":"Síndrome Kearns-Sayre"},"pl":{"name":"Zespół Kearnsa i Sayre'a","definition":"Zespół Kearnsa i Sayre'a (KSS) jest chorobą mitochondrialną, charakteryzującą się zespołem postępującej zewnętrznej oftalmoplegii (PEO), zwyrodnieniem barwnikowym siatkówki i początkiem w wieku poniżej 20 lat. Często występujące cechy dodatkowe to głuchota, ataksja móżdżkowa i blok przewodnictwa sercowego."},"cs":{"name":"Kearnsův-Sayreův syndrom","synonyms":["Kearns-Sayreův syndrom"]},"uk":{"name":"Синдром Кернса-Сейра","definition":"A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block."},"zh":{"name":"Kearns-Sayre综合征"},"tr":{"name":"Kearns-Sayre sendromu"}},"xrefs":[{"source":"OMIM","code":"530000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H49.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9C82.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"399100745"},{"source":"MONDO","code":"0010787","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007625","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0022541","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6817","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048804","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3390,"name":"Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":217613,"name":"Mitochondrial disease with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":225700,"name":"Mitochondrial disease with epilepsy","classifications":[156,181]},{"orpha":225703,"name":"Mitochondrial disease with peripheral neuropathy","classifications":[156,181]},{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":254767,"name":"Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","classifications":[156]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":181402,"name":"Syndrome with hypoparathyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"MT-ATP8","name":"mitochondrially encoded ATP synthase membrane subunit 8","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"7415","ensembl":"ENSG00000228253","omim":"516070","loci":["mitochondria"]},{"symbol":"MT-TL1","name":"mitochondrially encoded tRNA-Leu (UUA/G) 1","gene_type":"Non-coding RNA","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"7490","ensembl":"ENSG00000209082","omim":"590050","loci":["mitochondria"]},{"symbol":"RRM2B","name":"ribonucleotide reductase regulatory TP53 inducible subunit M2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21378381[PMID]","hgnc":"17296","ensembl":"ENSG00000048392","omim":"604712","loci":["8q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Mitochondrial inheritance","Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"[EXPERT]_17886296[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Finland","status":"Validated","source":"15781811[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"United Kingdom","status":"Validated","source":"17886296[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Israel","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-26","source":"29493966[PMID]_20301382[PMID]","terms":[{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001709","label":"Third degree atrioventricular block","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004622","label":"Progressive intervertebral space narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}